Examinant per Autoria "Pujol, Aurora, 1968-"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A view on clinical genetics and genomics in Spain: of challenges and opportunities.(Willey, 2016) Pàmpols, Teresa; Ramos, Feliciano J.; Lapunzina, Pablo Daniel; Gozalo-Salellas, Ignasi; Pérez Jurado, Luis Alberto; Pujol, Aurora, 1968-
Ítem Accés Obert Case report: benign infantile seizures temporally associated with COVID-19(Frontiers, 2020) García Howard, Marcos; Herranz Aguirre, Mercedes; Moreno Galarraga, Laura; Urretavizcaya Martínez, María; Alegría Echauri, Josune; Gorría Redondo, Nerea; Planas Serra, Laura; Schlüter, Agatha; Gut, Marta; Pujol, Aurora, 1968-; Aguilera Albesa, Sergio
Ítem Accés Obert ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization(BioMed Central, 2023) Schlüter, Agatha; Bullich, Gemma; Beltran, Sergi; Pérez Jurado, Luis Alberto; Pujol, Aurora, 1968-
Ítem Accés Obert Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance(Wiley, 2018) Fourcade, Stéphane; Morató, Laia; Parameswaran, Janani, 1990-; Ruiz, Montserrat; Ruiz Cortés, Tatiana; Jové, Mariona; Naudí, Alba; Martínez Redondo, Paloma; Dierssen, Mara; Ferrer, Isidre; Villarroya, Francesc; Pamplona, Reinald; Vaquero, Alejandro; Portero Otín, Manuel; Pujol, Aurora, 1968-
Ítem Accés Obert Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy(American Society for Clinical Investigation, 2019) Pant, Devesh Chandra, 1987-; Pujades Corbi, Cristina; Pujol, Aurora, 1968-
Ítem Accés Obert Modulation of mitochondrial and inflammatory homeostasis through RIP140 is neuroprotective in an adrenoleukodystrophy mouse model(Wiley, 2022) Ranea-Robles, Pablo; Galino, Jorge; Espinosa Blay, Lluís; Schlüter, Agatha; Ruiz, Montserrat; Calingasan, Noel Ylagan; Villarroya, Francesc; Naudí, Alba; Pamplona, Reinald; Ferrer, Isidre; Beal, M. Flint; Portero Otín, Manuel; Fourcade, Stéphane; Pujol, Aurora, 1968-
Ítem Accés Obert The value of mouse models of rare diseases: a spanish experience(Frontiers, 2020) Murillo-Cuesta, Silvia; Artuch, Rafael; Asensio, Fernando; Villa, Pedro de la; Dierssen, Mara; Enríquez, Jose Antonio; Fillat i Fonts, Cristina; Fourcade, Stéphane; Ibáñez, Borja; Montoliu, Lluis; Oliver, Eduardo; Pujol, Aurora, 1968-; Salido, Eduardo; Vallejo, Mario; Varela Nieto, Isabel